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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Tay-Sachs disease, adult form
GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form
Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form · MLD, adult form
Sandhoff disease, adult form
GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
Tay-Sachs disease
Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant
Tay-Sachs disease, infantile form
Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form
Tay-Sachs disease, juvenile form
Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form